Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.

Microscopic insights into metal diffusion and ohmic contact formation in delta-doped GaAs/(Al,Ga)As core/shell nanowires.

Semiconductor nanowires (NWs) are promising candidates for use in electronic and optoelectronic applications, offering numerous advantages over their thin film counterparts. Their performance relies heavily on the quality of the contacts to the NW, which should exhibit ohmic behavior with low resistance and should be formed in a reproducible manner. In the case of heterostructure NWs for high-mobility applications that host a two-dimensional electron gas, ohmic contacts are particularly challenging to implement since the NW core constituting the conduction channel is away from the NW surface. We investigated contact formation to modulation-doped GaAs/(Al,Ga)As core/shell NWs using scanning transmission electron microscopy, energy dispersive x-ray spectroscopy and electron tomography to correlate microstructure, diffusion profile and chemical composition of the NW contact region with the current-voltage (I-V) characteristics of the contacted NWs. Our results illustrate how diffusion, alloying and phase formation processes essential to the effective formation of ohmic contacts are more intricate than in planar layers, leading to reproducibility challenges even when the processing conditions are the same. We demonstrate that the NW geometry plays a crucial role in the creation of good contacts. Both ohmic and rectifying contacts were obtained under nominally identical processing conditions. Furthermore, the presence of Ge in the NW core, in the absence of Au and Ni, was found as the key factor leading to ohmic contacts. The analysis contributes to the current understanding of ohmic contact formation to heterostructure core/shell NWs offering pathways to enhance the reproducibility and further optimization of such NW contacts.

Efficacy of extracorporeal shockwave therapy, compared to corticosteroid injections, on pain, plantar fascia thickness and foot function in patients with plantar fasciitis: A systematic review and meta-analysis.

OBJECTIVE: To compare the efficacy of extracorporeal shock waves versus corticosteroids injections on pain, thickness of plantar fascia and foot function in patients with plantar fasciitis. Secondarily, to assess the efficacy of radial and focused extracorporeal shock waves and the most appropriated intensity (high, medium or low). DATA SOURCES: PubMed, SCOPUS, CINAHL and PEDro, until April 2024, according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. REVIEW METHODS: Randomized controlled trials comparing the efficacy of extracorporeal shock waves versus corticosteroids injections on pain intensity and sensitivity, thickness of plantar fascia and foot function in patients with plantar fasciitis. Methodological quality and risk of bias were assessed using PEDro Scale and Cochrane Risk of Bias Tool. Pooled effect was calculated using the standardized mean difference (SMD) and its 95% confidence interval (95%CI). RESULTS: Sixteen studies involving 1121 patients, showing a mean of 6 points in PEDro scale, were included. At three months, extracorporeal shock waves were better than corticosteroids injections in reducing pain (SMD -0.6; 95%CI -1.1 to -0.11) and thickness of the plantar fascia (SMD -0.4; 95%CI -0.8 to -0.01) and increasing foot function (SMD 0.27; 95%CI 0.12-0.44). At six months, extracorporeal shock waves are more effective in reducing pain (SMD -0.81; 95%CI -1.6 to -0.06) and increasing foot function (SMD 0.67; 95%CI 0.45-0.89). Local pain and slight erythema were the most frequent adverse events. CONCLUSIONS: Extracorporeal shock waves are a safe therapy, presenting more efficacy than corticosteroids injections in improving pain, thickness of plantar fascia and foot function at mid-term.

Optokinetic stimulation for the treatment of vestibular and balance disorders: a systematic review with meta-analysis.

OBJECTIVES: To analyse the effectiveness of optokinetic stimulation (OKS) for improving symptoms and function in patients with vestibular and balance disorders. METHODS: PubMed (MEDLINE), SCOPUS, Web of Science (WOS), CINAHL Complete, and PEDro databases were searched to identify randomized controlled trials (RCTs) that included patients with vestibular and balance disorders and compared the effects of OKS versus other interventions or no intervention on subjective or objective functional outcomes. Data were analysed by the standardized mean difference (SMD) and its 95% confidence interval. RESULTS: A total of 10 studies were selected including 468 patients, 177 of whom received OKS. There were no significant differences in scores on the Dizziness Handicap Inventory (DHI) (SMD = 0.02; 95% CI - 0.18 to 0.23; p = 0.83) or the visual analogue scale (VAS) for vertigo (SMD = 0.16; 95% CI - 1.25 to 1.58; p = 0.82). However, there were statistically significant differences in the timed up and go (TUG) test, with a large effect (SMD = - 1.13; 95% CI -2 to - 0.28; p = 0.009), and in the sensory organization test (SOT), with a medium effect (SMD = - 0.7; 95% CI - 1.21 to - 0.19; p = 0.007). Subgroup analysis showed significant effects of OKS on VAS (p = 0.017), TUG (p = 0.009) and SOT (p = 0.001) only in patients with balance disorders without vestibular disease (p > 0.05). CONCLUSIONS: OKS may improve dizziness intensity measured with VAS or dynamic balance measured whit TUG and SOT in patients with balance disorders not due to vestibular disease. The quality of the evidence was low or very low due to the small number of included studies. PROSPERO REGISTRY NUMBER: CRD42023445024.

Non-Immersive Virtual Reality-Based Therapy Applied in Cardiac Rehabilitation: A Systematic Review with Meta-Analysis.

BACKGROUND: The aim of this systematic review with meta-analysis was to assess the effectiveness of non-immersive virtual reality (niVR) active videogames in patients who underwent cardiac rehabilitation (CR). METHODS: A systematic review with meta-analysis, according to the PRISMA guidelines and previously registered in PROSPERO (CRD42023485240), was performed through a literature search in PubMed (Medline), SCOPUS, WOS, and PEDro since inception to 21 November 2023. We included randomized controlled trials (RCTs) that assessed the effectiveness of an niVR intervention, in comparison with conventional CR and usual care, on aerobic capacity and cardiovascular endurance (physical function), anxiety, depression, and quality of life (QoL). The risk of bias in individual studies was assessed using the Cochrane risk of bias tool. Effect size was estimated using Cohen's standardized mean difference (SMD) and its 95% confidence interval (95% CI) in a random-effects model. RESULTS: Nine RCT that met the inclusion criteria were included in the meta-analysis. The meta-analysis showed a moderate-to-large effect favoring niVR active videogames included in CR in increasing aerobic capacity and cardiovascular endurance (SMD = 0.74; 95% CI 0.11 to 1.37; p = 0.021) and reducing anxiety (SMD = -0.66; 95% CI -1.13 to -0.2; p = 0.006). Only 4.8% of patients reported adverse events while performing niVR active videogames. CONCLUSIONS: Inclusion of niVR active videogames in CR programs is more effective than conventional CR in improving aerobic capacity and cardiovascular endurance and in reducing anxiety.

Novel CT-based parameters assessing relative cross-sectional area to guide surgical management and predict clinical outcomes in patients with acute subdural hematoma.

INTRODUCTION: Acute subdural hematoma (aSDH) is one of the most devastating entities secondary to traumatic brain injury (TBI). Even though radiological computed tomography (CT) findings, such as hematoma thickness (HT), midline shift (MLS), and MLS/HT ratio, have an important prognostic role, they suffer from important drawbacks. We hypothesized that relative cross-sectional area (rCSA) of specific brain regions would provide valuable information about brain compression and swelling, thus being a key determining factor governing the clinical course. METHODS: We performed an 8-year retrospective analysis of patients with moderate to severe TBI with surgically evacuated, isolated, unilateral aSDH. We investigated the influence of aSDH rCSA and ipsilateral hemisphere rCSA along the supratentorial region on the subsequent operative technique employed for aSDH evacuation and patient's clinical outcomes (early death and Glasgow Outcome Scale [GOS] at discharge and after 1-year follow-up). Different conventional radiological variables were also assessed. RESULTS: The study included 39 patients. Lower HT, MLS, hematoma volume, and aSDH rCSA showed a significant association with decompressive craniectomy (DC) procedure. Conversely, higher ipsilateral hemisphere rCSA along the dorso-ventral axis and, specifically, ipsilateral hemisphere rCSA at the high convexity level were predictors for DC. CT segmentation analysis exhibited a modest relationship with early death, which was limited to the basal supratentorial subregion, but could not predict long-term outcome. CONCLUSION: rCSA is an objectifiable and reliable radiologic parameter available on admission CT that might provide valuable information to optimize surgical treatment.

Exercise therapy improves pain and mouth opening in temporomandibular disorders: A systematic review with meta-analysis.

OBJECTIVE: To analyse the effectiveness of exercise therapy in improving pain and active or passive maximum mouth opening in patients with temporomandibular disorders. DATA SOURCES: PubMed Medline, Web of Science, Scopus, CINAHL Complete and Physiotherapy Evidence Database, until April 2022, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. REVIEW METHODS: We included randomized controlled trials evaluating the effect of exercise therapy on pain and on active and passive maximum mouth opening in patients with temporomandibular disorders. Effect size was calculated using Cohen's standardized mean difference (SMD) and their 95% confidence interval (95% CI) in a random-effects model. RESULTS: A total of 16 studies with 812 participants were included. Exercise therapy is effective in reducing pain (SMD: -0.58; 95% CI: -1.01 to -0.12) and increasing the pain pressure threshold (SMD: 0.45; 95% CI: 0.14-0.76), active and passive maximum mouth opening (SMD: 0.43; 95% CI: 0.14-0.71 and SMD: 0.4; 95% CI: 0.06-0.75, respectively). Subgroup analyses showed more effect of exercise therapy more splints versus splints on pain (SMD: -0.5; 95% CI: -0.73 to -0.26), active and passive maximum mouth opening (SMD: 1.14; 95% CI: 0.22-2.07 and SMD: 0.56; 95% CI: 0.06-1.06, respectively). On pain pressure threshold, exercise therapy was better than physiotherapy approach (manual therapy and electrotherapy) (SMD: 0.48; 95% CI: 0.09-0.87). CONCLUSIONS: Therapeutic exercise is an effective therapy to reduce pain and increase pain pressure threshold and active and passive maximum mouth opening in patients with temporomandibular disorders.

A prospective study to identify preoperative serum parameters for spinal implant infection detected by sonication fluid culture.

PURPOSE: Low-virulent microorganisms identified on pedicle screws by sonication fluid culture (SFC) are an important cause of implant loosening. While sonication of explanted material improves the detection rate, the risk of contamination exists and no standardized diagnostic criteria for chronic low-grade spinal implant-related infection (CLGSII) are stablished. Besides, the role of serum C-reactive protein (CRP) and procalcitonin (PCT) in CLGSII has not been adequately investigated. METHODS: Blood samples were collected prior to implant removal. To increase sensitivity, the explanted screws were sonicated and processed separately. Patients exhibiting at least one positive SFC were classified in the infection group (loose criteria). To increase specificity, the strict criteria only considered multiple positive SFC (≥ 3 implants and/or ≥ 50% of explanted devices) as meaningful for CLGSII. Factors which might promote implant infection were also recorded. RESULTS: Thirty-six patients and 200 screws were included. Among them, 18 (50%) patients had any positive SFCs (loose criteria), whereas 11 (31%) patients fulfilled the strict criteria for CLGSII. Higher serum protein level was the most accurate marker for the preoperative detection of CLGSSI, exhibiting an area under the curve of 0.702 (loose criteria) and 0.819 (strict criteria) for the diagnosis of CLGSII. CRP only exhibited a modest accuracy, whereas PCT was not a reliable biomarker. Patient history (spinal trauma, ICU hospitalization and/or previous wound-related complications) increased the likelihood of CLGSII. CONCLUSION: Markers of systemic inflammation (serum protein level) and patient history should be employed to stratify preoperative risk of CLGSII and decide the best treatment strategy.

Calibrating the coevolution of Ediacaran life and environment.

The rise of animals occurred during an interval of Earth history that witnessed dynamic marine redox conditions, potentially rapid plate motions, and uniquely large perturbations to global biogeochemical cycles. The largest of these perturbations, the Shuram carbon isotope excursion, has been invoked as a driving mechanism for Ediacaran environmental change, possibly linked with evolutionary innovation or extinction. However, there are a number of controversies surrounding the Shuram, including its timing, duration, and role in the concomitant biological and biogeochemical upheavals. Here we present radioisotopic dates bracketing the Shuram on two separate paleocontinents; our results are consistent with a global and synchronous event between 574.0 ± 4.7 and 567.3 ± 3.0 Ma. These dates support the interpretation that the Shuram is a primary and synchronous event postdating the Gaskiers glaciation. In addition, our Re-Os ages suggest that the appearance of Ediacaran macrofossils in northwestern Canada is identical, within uncertainty, to similar macrofossils from the Conception Group of Newfoundland, highlighting the coeval appearance of macroscopic metazoans across two paleocontinents. Our temporal framework for the terminal Proterozoic is a critical step for testing hypotheses related to extreme carbon isotope excursions and their role in the evolution of complex life.

Virtual reality-based therapy improves balance and reduces fear of falling in patients with multiple sclerosis. a systematic review and meta-analysis of randomized controlled trials.

OBJECTIVE: This study aims to conduct a meta-analysis to assess the effect of virtual reality-based therapy (VRBT) on balance dimensions and fear of falling in patients with multiple sclerosis (PwMS). Secondarily, to determine the most recommendable dose of VRBT to improve balance. METHODS: PubMed Medline, Web of Science, Scopus, CINAHL and PEDro were screened, without publication date restrictions, until September 30th, 2021. Randomized controlled trials (RCTs) comparing the effectiveness of VRBT against other interventions in PwMS were included. Functional and dynamic balance, confidence of balance, postural control in posturography, fear of falling and gait speed were the variables assessed. A meta-analysis was performed by pooling the Cohen's standardized mean difference (SMD) with 95% confidence interval (95% CI) using Comprehensive Meta-Analysis 3.0. RESULTS: Nineteen RCTs, reporting 858 PwMS, were included. Our findings reported that VRBT is effective in improving functional balance (SMD = 0.8; 95%CI 0.47 to 1.14; p < 0.001); dynamic balance (SMD = - 0.3; 95%CI - 0.48 to - 0.11; p = 0.002); postural control with posturography (SMD = - 0.54; 95%CI - 0.99 to - 0.1; p = 0.017); confidence of balance (SMD = 0.43; 95%CI 0.15 to 0.71; p = 0.003); and in reducing fear of falling (SMD = - 1.04; 95%CI - 2 to - 0.07; p = 0.035); but not on gait speed (SMD = - 0.11; 95%CI: - 0.35 to 0.14; p = 0.4). Besides, the most adequate dose of VRBT to achieve the greatest improvement in functional balance was at least 40 sessions, five sessions per week and 40-45 min per sessions; and for dynamic balance, it would be between 8 and 19 weeks, twice a week and 20-30 min per session. CONCLUSION: VRBT may have a short-term beneficial role in improving balance and reducing fear of falling in PwMS.

Acute effects of fatigue on internal and external load variables determining cyclists' power profile.

The aim of the present study was to determine whether fatigue affects internal and external load variables determining power profile in cyclists. Ten cyclists performed outdoor power profile tests (lasting 1-, 5 and 20-min) on two consecutive days, subject either to a fatigued condition or not. Fatigue was induced by undertaking an effort (10-min at 95% of average power output obtained in a 20-min effort followed by 1-min maximum effort) until the power output decreased by 20% compared to the 1-min power output. Fatigued condition decreased power output (p < 0.05, 1-min: 9.0 ± 3.8%; 5-min: 5.9 ± 2.5%; 20-min: 4.1 ± 1.9%) and cadence in all test durations, without differences in torque. Lactate decreased in longer efforts when a fatigue protocol had previously been conducted (e.g., 20-min: 8.6 ± 3.0 vs. 10.9 ± 2.7, p < 0.05). Regression models (r2 ≥ 0.95, p < 0.001) indicated that a lower variation in load variables of 20-min in fatigued condition compared with the non-fatigued state resulted in a lower decrease in critical power after the fatigue protocol. The results suggest that fatigued condition on power was more evident in shorter efforts and seemed to rely more on a decrease in cadence than on torque.

The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood.

Although progress has been made in elucidating the behavioral and neural development of global stopping across the lifespan, little is known about the development of selective stopping. This more complex form of inhibitory control is required in real-world situations where ongoing responses must be inhibited to certain stimuli but not others, and can be assessed in laboratory settings using a stimulus selective stopping task. Here we used this task to investigate the qualitative and quantitative developmental changes in selective stopping in a large-scale cross-sectional study with three different age groups (children, preadolescents, and young adults). We found that the ability to stop a response selectively to some stimuli (i.e., use a selective strategy) rather than non-selectively to all presented stimuli (i.e., use a global, non-selective strategy) is fully mature by early preadolescence, and remains stable afterwards at least until young adulthood. By contrast, the efficiency or speed of stopping (indexed by a shorter stop-signal reaction time or SSRT) continues to mature throughout adolescence until young adulthood, both for global and selective implementations of stopping. We also provide some preliminary findings regarding which other task variables beyond the strategy and SSRT predicted age group status. Premature responding (an index of "waiting impulsivity") and post-ignore slowing (an index of cognitive control) were among the most relevant predictors in discriminating between developmental age groups. Although present results need to be confirmed and extended in longitudinal studies, they provide new insights into the development of a relevant form of inhibitory control.

Higher Hamstrings Strength and Stability Are Related to Lower Kinematics Alteration during Running after Central and Peripheral Fatigue.

Fatigue can be classified as peripheral or central depending on the extent of its effects. Muscle strength reduction, associated with the appearance of fatigue during running, produces kinetics and kinematics modifications which could lead to an increased risk of injury. This study aimed to analyze the effect of peripheral and central fatigue protocols in running kinematics and to investigate the relationship between isokinetic strength and dynamic stability in fatigue related changes. Eighteen male recreational runners participated in the study. The dynamic postural stability index (DPSI) and quadriceps and hamstring isokinetic strength were assessed before the fatigue test. Then, angular kinematics during treadmill running were evaluated in pre- and post-fatigue states (central and peripheral). The results showed that runners with higher hamstring isokinetic strength and better DPSI had lower modifications after central fatigue of stance time, knee flexion, vertical and leg stiffness, and ankle dorsiflexion during the absorption and propulsion phases (r > 0.400, p < 0.05). Moreover, small changes in ankle dorsiflexion at initial contact after peripheral fatigue are related to a better DPSI and higher hamstring isokinetic strength (r > 0.400, p < 0.05). In summary, high values of hamstring isokinetic concentric strength and dynamic stability are related to lower increases of range of movements during running after central and peripheral fatigue. So, fatigue may affect to a lesser extent the running technique of those runners with higher hamstring strength and stability values.

Efficacy of Robot-Assisted Gait Therapy Compared to Conventional Therapy or Treadmill Training in Children with Cerebral Palsy: A Systematic Review with Meta-Analysis.

BACKGROUND: Motor, gait and balance disorders reduce functional capabilities for activities of daily living in children with cerebral palsy (CP). Robot-assisted gait therapy (RAGT) is being used to complement conventional therapy (CT) or treadmill therapy (TT) in CP rehabilitation. The aim of this systematic review is to assess the effect of RAGT on gait, balance and functional independence in CP children, in comparison to CT or TT. METHODS: We have conducted a systematic review with meta-analysis. A search in PubMed Medline, Web of Science, Scopus, CINAHL, PEDro and SciELO has been conducted for articles published until October 2022. Controlled clinical trials (CCT), in which RAGT was compared to TT or CT and assessed gait speed, step and stride length, width step, walking distance, cadence, standing ability, walking, running and jumping ability, gross motor function and functional independence in children with CP, have been included. Methodological quality was assessed with the PEDro scale and the pooled effect was calculated with Cohen's Standardized Mean Difference (SMD) and its 95% Confidence Interval (95% CI). RESULTS: A total of 15 CCTs have been included, providing data from 413 participants, with an averaged methodological quality of 5.73 ± 1.1 points in PEDro. The main findings of this review are that RAGT shows better results than CT in the post-intervention assessment for gait speed (SMD 0.56; 95% CI 0.03 to 1.1), walking distance (SMD 2; 95% CI 0.36 to 3.65) and walking, running and jumping ability (SMD 0.63; 95% CI 0.12 to 1.14). CONCLUSIONS: This study shows that the effect of RAGT is superior to CT on gait speed, walking distance and walking, running and jumping ability in post-intervention, although no differences were found between RAGT and TT or CT for the remaining variables.

Chronic and Acute Effects on Skin Temperature from a Sport Consisting of Repetitive Impacts from Hitting a Ball with the Hands.

Valencian handball consists in hitting the ball with the hands and it may contribute to injury development on the hands. This study aimed to analyze skin temperature asymmetries and recovery after a cold stress test (CST) in professional players of Valencian handball before and after a competition. Thirteen professional athletes and a control group of ten physically active participants were measured. For both groups, infrared images were taken at the baseline condition; later they underwent a thermal stress test (pressing for 2 min with the palm of the hand on a metal plate) and then recovery images were taken. In athletes, the images were also taken after their competition. Athletes at baseline condition presented lower temperatures (p < 0.05) in the dominant hand compared with the non-dominant hand. There were asymmetries in all regions after their match (p < 0.05). After CST, a higher recovery rate was found after the game. The regions with the most significant differences in variation, asymmetries and recovery patterns were the index, middle and ring fingers, and the palm of the dominant hand. Taking into account that lower temperatures and the absence of temperature variation may be the consequence of a vascular adaptation, thermography could be used as a method to prevent injuries in athletes from Valencian handball.

Reproducibility of skin temperature analyses by novice and experienced evaluators using infrared thermography.

Infrared thermography (IRT) has become popular in several areas of knowledge. However, the analyses of thermal images often request manual actions, and little is known about the effect of the evaluator's experience on analysis thermal images. Here, we determine the reproducibility of IRT images analysis performed by evaluators with different levels of experience. Eight evaluators (GE, group experienced, n = 4; GN, group novice, n = 4) analyzed thermograms from 40 healthy participants recorded before and after exercise to determine the mean, minimum, maximum, standard deviation, and range of skin temperature in the anterior thigh and posterior leg. Before and after exercise, mean temperature showed excellent reproducibility for both groups for the anterior thigh (ICC >0.98) and posterior leg (ICC >0.94), and maximum temperature showed excellent reproducibility for both groups in the posterior leg (ICC >0.91). The influence of experience level was not significant considering the anterior thigh. Similarly, experience level did not affect the mean, maximum, and standard deviation temperature determined for the posterior leg. For the posterior leg, minimum temperature presented lower values and the range was higher among novice evaluators. Mean skin temperature showed narrower 95% limits of agreement than minimum and maximum for both regions and moments. Caution is advised when temperature ranges and minimums are determined by different evaluators. We conclude that for IRT analysis by evaluators with different levels of experience, the mean and maximum temperatures should be prioritized due to their better reproducibility.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of ≥-6 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy. We found no candidate genes in 23% of the patients, which suggests that further studies are needed. We propose a systematic genetic analysis for patients with EoHM because it helps with follow-up, prognosis and genetic counseling.

Impact of Fibromyalgia Syndrome on Female Sexual Function: A Systematic Review With Meta-analysis.

OBJECTIVE: The aim of this study was to examine sexual dysfuntion in women diagnosed with FMS compared with healthy controls. METHODS: A systematic review with meta-analysis was performed. The literature search was conducted using PubMed Medline, Scopus, Web of Science, CINAHL, SciELO, and PsycINFO PROQUEST until February 2021. Observational studies with 2 groups (women with FMS and healthy controls) that assessed sexual function were included. Pooled effect was calculated using Cohen standardized mean difference (SMD) and its 95% confidence interval (CI) in a random-effects model. RESULTS: Twelve studies were included comprising 1367 women (766 diagnosed with FMS and 601 healthy controls). The methodological quality of the included studies was moderate, according to the Newcastle-Ottawa Scale. Our findings showed a significant sexual dysfunction in women diagnosed with FMS (SMD = 1.72; 95% CI, 1.18-2.26; p < 0.001). In addition, the secondary outcomes more affected in women with FMS were sexual satisfaction (SMD = -2.09; 95% CI, -2.83 to -1.36; p < 0.001) and the pain during sexual relations (SMD = -1.97; 95% CI, -2.81 to -1.12; p < 0.001). CONCLUSIONS: Women with FMS showed a significant sexual dysfunction and other related sexual difficulties, such as increase in sexual pain and a decreased sexual desire or sexual satisfaction, compared with healthy women.

Effects of Non-Invasive Radiofrequency Diathermy in Pelvic Floor Disorders: A Systematic Review.

Background and Objectives: In recent years, the use of radiofrequency diathermy in pelvic floor disorders has grown proportionally to the interest in this specialty. Despite the common use of this therapy among pelvic floor physiotherapists, little is known about its effects and effectiveness in pelvic floor disorders. For this reason, the aim of the present review is to assess the effects of non-invasive 300 kHz-1 MHz radiofrequency diathermy in the treatment of pelvic floor disorders. Materials and Methods: A literature search was performed in PubMed, Scopus and Web of Science, searching for any type of study that included pelvic floor disorder participants and an experimental group treated with non-invasive nor ablative radiofrequency diathermy. Results: There were a total of 578 studies after removing duplicates. The inclusion and exclusion criteria were applied, resulting in a total of 15 studies, which were methodologically assessed with PEDro and the Newcastle and Ottawa scale. Conclusions: Despite the low quality of most of them, the studies showed improvements in urinary incontinence, pelvic pain conditions, pelvic floor muscles strength and sexual function. These findings must be considered with caution until more randomized clinical trials are performed to solve the biases detected.

Nintendo Wii Balance Board therapy for postural control in children with cerebral palsy: a systematic review and meta-analysis.

AIM: To analyse the efficacy of Nintendo Wii therapy (NWT) on functional balance in children with cerebral palsy (CP). METHOD: A systematic review with meta-analysis (PROSPERO identification number CRD42020169510) was performed using randomized controlled trials (RCTs) that examined the effect of NWT on functional, dynamic, and static balance in children with CP, assessed with the Pediatric Balance Scale, the Timed Get Up and Go Test, and the One Leg Stance Test respectively. The pooled effect was calculated using the Cohen's standardized mean difference (SMD). RESULTS: Eleven RCTs with 270 children (when sex was reported: 43% females, 57% males) with CP (mean age [SD] 10y 1mo [1y 1mo], range 5-16y) were included. On functional balance, we found very low-quality evidence with a large effect of NWT compared with no intervention (SMD 0.95, 95% confidence interval [CI] 0.02-1.89) and moderate-quality evidence for using NWT plus conventional physical therapy (CPT) versus CPT (SMD 0.78, 95% CI 0.20-1.35) in sessions of approximately 30 minutes (SMD 0.86, 95% CI 0.20-1.52) and interventions lasting longer than 3 weeks (SMD 1.03, 95% CI 0.58-1.47). For dynamic balance, very low-quality evidence for a medium effect for using NWT plus CPT versus CPT (SMD 0.70, 95% CI 0.12-1.29) was found. INTERPRETATION: NWT can be considered an effective treatment for improving functional and dynamic balance in children with CP, especially when combined with CPT in 30-minute sessions with interventions lasting longer than 3 weeks. What this paper adds Moderate-quality evidence with a large effect of Nintendo Wii therapy (NWT) on functional balance, compared with conventional physical therapy (CPT). Moderate-quality evidence with medium effect of NWT plus CPT on functional and dynamic balance, compared with CPT. Appropriate NWT sessions should be equal to or slightly less than 30 minutes. NWT interventions must be longer than 3 weeks.